Gene
chsy1
- ID
- ZDB-GENE-030131-3127
- Name
- chondroitin sulfate synthase 1
- Symbol
- chsy1 Nomenclature History
- Previous Names
-
- chys1
- wu:fc27h05
- wu:fc27h06
- zgc:64191
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Acts upstream of or within several processes, including chondroitin sulfate proteoglycan biosynthetic process; pectoral fin development; and sensory organ morphogenesis. Predicted to be located in Golgi cisterna membrane. Is expressed in several structures, including central nervous system; cranium; inner ear; pectoral fin bud; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in temtamy preaxial brachydactyly syndrome. Orthologous to human CHSY1 (chondroitin sulfate synthase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64191 (10 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-chsy1 | Habicher et al., 2022 | |
| CRISPR2-chsy1 | Habicher et al., 2022 | |
| MO1-chsy1 | N/A | (6) |
| MO2-chsy1 | N/A | Li et al., 2010 |
| MO3-chsy1 | N/A | (3) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| temtamy preaxial brachydactyly syndrome | Alliance | Temtamy preaxial brachydactyly syndrome | 605282 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Chondroitin N-acetylgalactosaminyltransferase | Chondroitin sulfate glycosyltransferase | Nucleotide-diphospho-sugar transferases |
|---|---|---|---|---|---|
| UniProtKB:Q6P296 | InterPro | 801 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-44P7 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-180K7 | ZFIN Curated Data | |
| Encodes | EST | fc27h05 | ||
| Encodes | EST | fc27h06 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:64191 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_212678 (1) | 3982 nt | ||
| Genomic | GenBank:CU457792 (2) | 172744 nt | ||
| Polypeptide | UniProtKB:Q6P296 (1) | 801 aa |
- Habicher, J., Varshney, G.K., Waldmann, L., Snitting, D., Allalou, A., Zhang, H., Ghanem, A., Öhman Mägi, C., Dierker, T., Kjellén, L., Burgess, S.M., Ledin, J. (2022) Chondroitin/dermatan sulfate glycosyltransferase genes are essential for craniofacial development. PLoS Genetics. 18:e1010067
- Jones, A.A., Diamantopoulou, E., Baxendale, S., Whitfield, T.T. (2022) Presence of chondroitin sulphate and requirement for heparan sulphate biosynthesis in the developing zebrafish inner ear. Frontiers in cell and developmental biology. 10:959624
- Derrick, C.J., Sánchez-Posada, J., Hussein, F., Tessadori, F., Pollitt, E.J.G., Savage, A.M., Wilkinson, R.N., Chico, T.J., van Eeden, F.J., Bakkers, J., Noël, E.S. (2021) Asymmetric Hapln1a drives regionalised cardiac ECM expansion and promotes heart morphogenesis in zebrafish development. Cardiovascular research. 118(1):226-240
- Caballero-Gallardo, K., Wirbisky-Hershberger, S.E., Olivero-Verbel, J., de la Rosa, J., Freeman, J.L. (2018) Embryonic exposure to an aqueous coal dust extract results in gene expression alterations associated with the development and function of connective tissue and the hematological system, immunological and inflammatory disease, and cancer in zebrafish. Metallomics : integrated biometal science. 10(3):463-473
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Filipek-Górniok, B., Holmborn, K., Haitina, T., Habicher, J., Oliveira, M.B., Hellgren, C., Eriksson, I., Kjellén, L., Kreuger, J., and Ledin, J. (2013) Expression of chondroitin/dermatan sulfate glycosyltransferases during early zebrafish development. Developmental Dynamics : an official publication of the American Association of Anatomists. 242(8):964-75
- Geng, F.S., Abbas, L., Baxendale, S., Holdsworth, C.J., Swanson, A.G., Slanchev, K., Hammerschmidt, M., Topczewski, J., and Whitfield, T.T. (2013) Semicircular canal morphogenesis in the zebrafish inner ear requires the function of gpr126 (lauscher), an adhesion class G protein-coupled receptor gene. Development (Cambridge, England). 40(21):4362-4374
- Holmborn, K., Habicher, J., Kasza, Z., Eriksson, A.S., Filipek-Gorniok, B., Gopal, S., Couchman, J.R., Ahlberg, P., Wiweger, M., Spillman, D., Kreuger, J., and Ledin, J. (2012) On the roles and regulation of chondroitin sulfate and heparan sulfate in zebrafish pharyngeal cartilage morphogenesis. The Journal of biological chemistry. 287(40):33905-33916
- Li, Y., Laue, K., Temtamy, S., Aglan, M., Kotan, L.D., Yigit, G., Canan, H., Pawlik, B., Nürnberg, G., Wakeling, E.L., Quarrell, O.W., Baessmann, I., Lanktree, M.B., Yilmaz, M., Hegele, R.A., Amr, K., May, K.W., Nürnberg, P., Topaloglu, A.K., Hammerschmidt, M., and Wollnik, B. (2010) Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling. American journal of human genetics. 87(6):757-767
- Tian, J., Ling, L., Shboul, M., Lee, H., O'Connor, B., Merriman, B., Nelson, S.F., Cool, S., Ababneh, O.H., Al-Hadidy, A., Masri, A., Hamamy, H., and Reversade, B. (2010) Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling. American journal of human genetics. 87(6):768-778
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